Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

Molecular Therapy - Nucleic Acids - Tập 7 - Trang 465-474 - 2017
Dominic Jauvin1, Jessina Chrétien1, Sanjay K. Pandey2,3, Laurie Martineau1, Lucille Revillod4, Guillaume Bassez4, Aline Lachon5, A. Robert MacLeod2, Geneviève Gourdon5, Thurman M. Wheeler6, Charles A. Thornton7, C. Frank Bennett2, Jack Puymirat1,8
1Laval University Experimental Organogenesis Center/LOEX, Enfant-Jésus Hospital, Québec, QC G1J 1Z4, Canada
2Ionis Pharmaceuticals, Inc., Carlsbad, CA 92010, USA
3Triangulum Biopharma, San Diego, CA 92121, USA
4INSERM U955, Neuromuscular Reference Center, Henri-Mondor Hospital, Créteil 94000, France
5INSERM U781, Imagine Institute, Paris 75015, France
6Massachusetts General Hospital, Boston, MA 02114-3117, USA
7University of Rochester Medical Center, Rochester, NY, 14642 USA
8Department of Neurological Sciences CHU de Québec-Laval University, Enfant-Jésus Hospital, Québec, QC G1J 1Z4, Canada

Tài liệu tham khảo

Harper, 2001

Furling, 2001, Defective satellite cells in congenital myotonic dystrophy, Hum. Mol. Genet., 10, 2079, 10.1093/hmg/10.19.2079

Sarnat, 1976, Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases, Arch. Neurol., 33, 466, 10.1001/archneur.1976.00500070008002

Thornton, 2014, Myotonic dystrophy, Neurol. Clin., 32, 705, 10.1016/j.ncl.2014.04.011

Taneja, 1995, Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues, J. Cell Biol., 128, 995, 10.1083/jcb.128.6.995

Kalsotra, 2008, A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart, Proc. Natl. Acad. Sci. USA, 105, 20333, 10.1073/pnas.0809045105

Timchenko, 2001, RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1, J. Biol. Chem., 276, 7820, 10.1074/jbc.M005960200

Paul, 2006, Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing, EMBO J., 25, 4271, 10.1038/sj.emboj.7601296

Mankodi, 2005, Nuclear RNA foci in the heart in myotonic dystrophy, Circ. Res., 97, 1152, 10.1161/01.RES.0000193598.89753.e3

Kuyumcu-Martinez, 2006, Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy, Prog. Mol. Subcell. Biol., 44, 133, 10.1007/978-3-540-34449-0_7

Mankodi, 2000, Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat, Science, 289, 1769, 10.1126/science.289.5485.1769

Ho, 2005, Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy, Hum. Mol. Genet., 14, 1539, 10.1093/hmg/ddi162

Huguet, 2012, Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus, PLoS Genet., 8, e1003043, 10.1371/journal.pgen.1003043

Hernández-Hernández, 2013, Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour, Brain, 136, 957, 10.1093/brain/aws367

Wheeler, 2009, Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA, Science, 325, 336, 10.1126/science.1173110

Wheeler, 2012, Targeting nuclear RNA for in vivo correction of myotonic dystrophy, Nature, 488, 111, 10.1038/nature11362

Pandey, 2015, Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1, J. Pharmacol. Exp. Ther., 355, 329, 10.1124/jpet.115.226969

Klinck, 2014, RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1, PLoS ONE, 9, e107324, 10.1371/journal.pone.0107324

Geary, 2003, Pharmacokinetics of a tumor necrosis factor-alpha phosphorothioate 2′-O-(2-methoxyethyl) modified antisense oligonucleotide: comparison across species, Drug Metab. Dispos., 31, 1419, 10.1124/dmd.31.11.1419

Reddy, 1996, Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy, Nat. Genet., 13, 325, 10.1038/ng0796-325

Seznec, 2001, Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities, Hum. Mol. Genet., 10, 2717, 10.1093/hmg/10.23.2717

Panaite, 2011, Peripheral neuropathy is linked to a severe form of myotonic dystrophy in transgenic mice, J. Neuropathol. Exp. Neurol., 70, 678, 10.1097/NEN.0b013e3182260939

Lieberman, 2014, Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy, Cell Rep., 7, 774, 10.1016/j.celrep.2014.02.008

Yin, 2011, Pip5 transduction peptides direct high efficiency oligonucleotide-mediated dystrophin exon skipping in heart and phenotypic correction in mdx mice, Mol. Ther., 19, 1295, 10.1038/mt.2011.79

González-Barriga, 2015, Cell membrane integrity in myotonic dystrophy type 1: implications for therapy, PLoS ONE, 10, e0121556, 10.1371/journal.pone.0121556

Burel, 2013, Preclinical evaluation of the toxicological effects of a novel constrained ethyl modified antisense compound targeting signal transducer and activator of transcription 3 in mice and cynomolgus monkeys, Nucleic Acid Ther., 23, 213, 10.1089/nat.2013.0422

Cheng, 2015, Effects on murine behavior and lifespan of selectively decreasing expression of mutant huntingtin allele by supt4h knockdown, PLoS Genet., 11, e1005043, 10.1371/journal.pgen.1005043

Finkel, 2014, G.O.17: results of a phase 2 open-label study of ISIS-SMNRx in patients with infantile (type 1) spinal muscular atrophy, Neurol. Disord., 24, 920, 10.1016/j.nmd.2014.06.416

Seth, 2009, Short antisense oligonucleotides with novel 2′-4′ conformationaly restricted nucleoside analogues show improved potency without increased toxicity in animals, J. Med. Chem., 52, 10, 10.1021/jm801294h

Burel, 2016, Hepatotoxicity of high affinity gapmer antisense oligonucleotides is mediated by RNase H1 dependent promiscuous reduction of very long pre-mRNA transcripts, Nucleic Acids Res., 44, 2093, 10.1093/nar/gkv1210

Guo, 2014, Antisense oligonucleotide treatment ameliorates alpha-1 antitrypsin-related liver disease in mice, J. Clin. Invest., 124, 251, 10.1172/JCI67968

Crooke, 2013, Clinical pharmacological properties of mipomersen (Kynamro), a second generation antisense inhibitor of apolipoprotein B, Br. J. Clin. Pharmacol., 76, 269, 10.1111/j.1365-2125.2012.04469.x

Langlois, 2005, Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells, J. Biol. Chem., 280, 16949, 10.1074/jbc.M501591200

Holt, 2007, Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles, Genes Cells, 12, 1035, 10.1111/j.1365-2443.2007.01112.x

Bassez, 2008, Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy, J. Neuropathol. Exp. Neurol., 67, 319, 10.1097/NEN.0b013e31816b4acc

Irizarry, 2003, Exploration, normalization, and summaries of high density oligonucleotide array probe level data, Biostatistics, 4, 249, 10.1093/biostatistics/4.2.249

Smyth, 2004, Linear models and empirical bayes methods for assessing differential expression in microarray experiments, Stat. Appl. Genet. Mol. Biol., 3, 10.2202/1544-6115.1027

Benjamini, 2001, Controlling the false discovery rate in behavior genetics research, Behav. Brain Res., 125, 279, 10.1016/S0166-4328(01)00297-2

Wettenhall, 2006, affylmGUI: a graphical user interface for linear modeling of single channel microarray data, Bioinformatics, 22, 897, 10.1093/bioinformatics/btl025

Vignaud, 2010, Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway, Neuromuscul. Disord., 20, 319, 10.1016/j.nmd.2010.03.006

Dolgin, 2017, Spinal muscular atrophy approval boosts antisense drugs, Nat Biotechnol., 35, 99, 10.1038/nbt0217-99